Details of Disease

General Information of Disease (ID: DISNRKLV)

Disease Name Hereditary spherocytosis type 5
Synonyms
spherocytosis, type 5; spherocytosis, hereditary, 5; hereditary spherocytosis type 5; SPH5; HS5; hereditary spherocytosis caused by mutation in EPB42; hereditary spherocytosis 5; EPB42 hereditary spherocytosis
Definition Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.
Disease Hierarchy
DISQYJP5: Hereditary spherocytosis
DISNRKLV: Hereditary spherocytosis type 5
Disease Identifiers
MONDO ID
MONDO_0012985
MESH ID
C567202
UMLS CUI
C2675192
OMIM ID
612690
MedGen ID
436371

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EPB42 OTKJND3Z Strong Autosomal recessive [1]
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References

1 Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG). Haematologica. 2000 Jan;85(1):19-24.